Canonical Allele Identifier: CA431821697
Gene: SAG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.233309271G>T
GRCh37 chr2:g.234217917G>T
Revel Score:
ENST00000478615 0.006
gnomAD v2:
2:234217917 G / T
gnomAD v3:
2:233309271 G / T
gnomAD v4:
chr2-233309271-G-T
Joint Max Group AF 0.00004033 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00004107 (NFE)
ClinVar Allele:
887320
ClinVar RCV:
RCV001140234
RCV001140235
RCV002070674
ClinVar Variation:
897119
dbSNP:
753990994
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233309271G>T , CM000664.2:g.233309271G>T GRCh38
NC_000002.11:g.234217917G>T , CM000664.1:g.234217917G>T GRCh37
NC_000002.10:g.233882656G>T NCBI36
NG_009116.1:g.6609G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409110.6:c.75+7G>T MANE Select ENSP00000386444.1:n.75+7G>T
ENST00000409110.5:c.75+7G>T ENSP00000386444.1:n.75+7G>T
ENST00000412969.6:n.201G>T
ENST00000415974.1:c.75+7G>T ENSP00000409475.1:n.75+7G>T
ENST00000447536.5:c.75+7G>T ENSP00000408937.1:n.75+7G>T
ENST00000453143.5:c.75+7G>T ENSP00000404733.1:n.75+7G>T
ENST00000462487.5:n.144+1249G>T
ENST00000471884.5:n.246+7G>T
ENST00000476500.5:n.310+7G>T
ENST00000479450.1:n.139+1249G>T
NM_000541.4:c.75+7G>T NP_000532.2:n.75+7G>T
XM_011511589.1:c.75+7G>T XP_011509891.1:n.75+7G>T
XM_011511590.1:c.75+7G>T XP_011509892.1:n.75+7G>T
XM_011511591.1:c.75+7G>T XP_011509893.1:n.75+7G>T
XM_011511595.1:c.75+7G>T XP_011509897.1:n.75+7G>T
XM_011511597.1:c.-134+7G>T XP_011509899.1:n.-134+7G>T
XR_922978.1:n.271+7G>T
XR_922979.1:n.271+7G>T
XM_017004641.1:c.75+7G>T XP_016860130.1:n.75+7G>T
XM_017004642.1:c.75+7G>T XP_016860131.1:n.75+7G>T
XM_017004643.1:c.75+7G>T XP_016860132.1:n.75+7G>T
XR_001738882.1:n.152+7G>T
NM_000541.5:c.75+7G>T MANE Select NP_000532.2:n.75+7G>T
Search 100 bp 5'
Search 100 bp 3'